Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2

Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 is a complex condition that primarily affects neurodevelopment, endocrine function, and physical growth. It typically presents with early feeding difficulties and marked hypotonia in infancy, followed later by the development of excessive hunger and obesity along with behavioral challenges. The underlying cause involves genomic imprinting, where the expression of genes depends on whether they are inherited from the mother or the father. Prevalence estimates are not well defined, and individual experiences with the condition vary considerably.

Individuals with this condition often exhibit significant hypotonia and feeding difficulties in early infancy, which can prompt clinical evaluation. As they grow, many develop an excessive appetite (polyphagia) leading to obesity, along with endocrine issues such as delayed puberty, hypogonadism, and abnormalities in thyroid function. Neurological and behavioral features, including abnormal temper tantrums, autistic behaviors, self-injurious actions, and occasional psychosis, are also observed. Not all individuals experience all features, and severity varies considerably.

This condition involves genomic imprinting, a phenomenon where gene expression depends on whether the gene is inherited from the mother or the father. In cases of Prader-Willi syndrome due to paternal deletion, the normal expression of genes on the paternally inherited chromosome 15 is disrupted, leading to the clinical features observed. Recurrence risk depends on the underlying molecular mechanism and should be discussed with a genetic counselor. The precise genetic basis remains complex and continues to be investigated.

Currently, management focuses on supportive care and symptom management tailored to the individual. A multidisciplinary approach involving endocrinologists, nutritionists, developmental specialists, and other healthcare professionals is central to addressing the diverse needs of affected individuals. Regular surveillance is an essential part of long-term care, helping to identify potential complications before they become serious. Patients should discuss treatment options with their healthcare team, and genetic counseling is recommended to guide family planning and ongoing care.

Prader-Willi syndrome due to paternal deletion is a lifelong condition characterized by early challenges with feeding and hypotonia, followed by the development of hyperphagia and endocrine issues later in life. With current standards of care, many individuals live into adulthood, although outcomes vary widely depending on symptom severity, age at diagnosis, and access to specialized, multidisciplinary care. Outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with specialists experienced in managing this condition and to seek genetic counseling for ongoing guidance.

Clinical trials are underway exploring new treatment approaches for this condition. Individuals interested in clinical trials are encouraged to search ClinicalTrials.gov or consult their care team about eligibility and the latest research developments.